Structural eye disease
Gene: NYX

NYX (nyctalopin)
EnsemblGeneIds (GRCh38): ENSG00000188937
EnsemblGeneIds (GRCh37): ENSG00000188937
OMIM: 300278, Gene2Phenotype
NYX is in 6 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Night blindness, congenital stationary (complete), 1A, X-linked; 310500

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Night blindness, congenital stationary (complete), 1A, X-linked, 310500

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

NHS GMS
Expert Review Red

Phenotypes

Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Eye Disorders

OMIM

300278

Clinvar variants

Variants in NYX

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NYX. Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 for gene: NYX

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NYX was added gene: NYX was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NYX was set to Phenotypes for gene: NYX were set to Eye Disorders

Structural eye disease Gene: NYX